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TNNI3 troponin I type 3 (cardiac) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000363 Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

*Business Day

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Gene Symbol TNNI3
Entrez Gene ID 7137
Full Name troponin I type 3 (cardiac)
Synonyms CMD1FF, CMD2A, CMH7, RCM1, TNNC1, cTnI
General protein information
Preferred Names
troponin I, cardiac muscle
Names
troponin I, cardiac muscle
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19q13.4

Summary Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). [provided by RefSeq, Jul 2008].
Disorder

MIM: 191044

Cardiomyopathy, familial hypertrophic, 7, 613690 (3); Cardiomyopathy,

mRNA Protein Product Sequence Price Select
NM_000363, 151101269 NP_000354, 151101270 troponin I, cardiac muscle ORF Sequence $159.00
KEGG
hsa04260Cardiac muscle contraction
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa04261Adrenergic signaling in cardiomyocytes
WikiPathways
WP383Striated Muscle Contraction
WP2406Cardiac Progenitor Differentiation
Reactome
REACT_16969Striated Muscle Contraction
REACT_17044Muscle contraction
Homo sapiens (human)TNNI3NP_000354.4
Pan troglodytes (chimpanzee)TNNI3XP_001134934.2
Macaca mulatta (Rhesus monkey)TNNI3XP_001085820.1
Canis lupus familiaris (dog)TNNI3NP_001003041.1
Bos taurus (cattle)LOC511094NP_001035607.1
Mus musculus (house mouse)Tnni3NP_033432.1
Rattus norvegicus (Norway rat)Tnni3NP_058840.1
Xenopus (Silurana) tropicalis (western clawed frog)tnni3NP_001011410.1
Process
IDNameEvidence
GO:0001570vasculogenesisISS
GO:0001980regulation of systemic arterial blood pressure by ischemic conditionsISS
GO:0006874cellular calcium ion homeostasisISS
GO:0006940regulation of smooth muscle contractionIEA
GO:0007507heart developmentISS
GO:0030049muscle filament slidingTAS
GO:0032780negative regulation of ATPase activityIDA
GO:0032780negative regulation of ATPase activityIMP
GO:0055010ventricular cardiac muscle tissue morphogenesisIMP
GO:0060047heart contractionIMP
GO:0060048cardiac muscle contractionIMP
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0005861troponin complexIDA
GO:0030017sarcomereTAS
Function
IDNameEvidence
GO:0003779actin bindingIDA
GO:0005515protein bindingIPI
GO:0019855calcium channel inhibitor activityIPI
GO:0019901protein kinase bindingIPI
GO:0019904protein domain specific bindingIPI
GO:0030172troponin C bindingIPI
GO:0031014troponin T bindingIPI
GO:0046872metal ion bindingIEA
GO:0048306calcium-dependent protein bindingIPI
GeneCards TNNI3
PDB 1LXF, 2L1R, 2KRD, 2KGB, 1J1E, 1MXL, 1J1D, 1OZS
UniProt Q6FGX2, P19429
Vega OTTHUMG00000180589
MIM 191044
Ensembl ENSG00000129991
HGNC 11947
HPRD 11769

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the TNNI3 gene?

The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart (cardiac) muscle. Cardiac troponin I is one of three proteins that make up the troponin protein complex in cardiac muscle cells. The troponin complex is associated with a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres are made up of thick and thin filaments. The overlapping thick and thin filaments attach (bind) to each other and release, which allows the filaments to move relative to one another so that muscles can contract. The troponin complex, along with calcium, helps regulate tensing (contraction) of cardiac muscle.

For the heart to beat normally, cardiac muscle must contract and relax in a coordinated way. Cardiac troponin I helps to coordinate contraction of the heart. When calcium levels are low, the troponin complex binds to the thin filament. This binding blocks the interaction between the thick and thin filaments that is needed for muscle contraction. An increase in calcium levels causes structural changes in another troponin complex protein called troponin C, which then triggers the troponin complex to detach from the thin filament, allowing the heart muscle to contract.

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